{"orpha":401959,"name":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["KPNA7-related neurodevelopmental disorder"],"definition":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401959/","orphanet_url":"https://www.orpha.net/en/disease/detail/401959","names":{"fr":{"name":"Syndrome d'agénésie partielle du corps calleux-hypoplasie du vermis avec kystes de la fosse postérieure","synonyms":["Trouble du neurodéveloppement associé à KPNA7"],"definition":"Syndrome rare et héréditaire de malformations cérébrales associées à une épilepsie, caractérisé par un retard de développement global sévère sans acquisition de la marche ni du langage verbal, ainsi que par une épilepsie réfractaire, une agénésie partielle du corps calleux et une hypoplasie du vermis du cervelet avec kystes de la fosse postérieure."},"de":{"name":"Syndrom der partiellen Corpus callosum-Agenesie mit zerebellärer Vermishypoplasie und Zysten der hinteren Schädelgrube","synonyms":["KPNA7-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de agenesia parcial del cuerpo calloso-hipoplasia del vermis cerebeloso con quistes de la fosa posterior","synonyms":["Trastorno del neurodesarrollo asociado al gen KPNA7"],"definition":"El síndrome de agenesia parcial del cuerpo calloso - hipoplasia del vermis cerebeloso con quistes de la fosa posterior, es una malformación cerebral hereditaria y poco frecuente, con síndrome epiléptico, caracterizado por grave retraso global del desarrollo sin capacidad para deambular y ausencia del lenguaje verbal, epilepsia intratable, agenesia parcial del cuerpo calloso e hipoplasia del vermis cerebeloso con quistes de la fosa posterior."},"it":{"name":"Sindrome agenesia parziale del corpo calloso-ipoplasia del verme cerebellare con cisti della fossa posteriore","synonyms":["Malattia del neurosviluppo correlata a KPNA7"],"definition":"La sindrome che associa l'agenesia parziale del corpo calloso e l'ipoplasia del verme cerebellare con cisti della fossa cranica posteriore è una malformazione cerebrale ereditaria rara associata ad epilessia; è caratterizzata da grave ritardo dello sviluppo globale, incapacità di deambulare, assenza del linguaggio verbale, epilessia non trattabile, agenesia parziale del corpo calloso ed ipoplasia del verme cerebellare con cisti della fossa posteriore."},"nl":{"name":"Partiële agenesie van corpus callosum - hypoplasie van vermis cerebelli met cysten in fossa cranialis posterior-syndroom","synonyms":["KPNA7-gerelateerde neurologische ontwikkelingsstoornis","Partiële agenesie van corpus callosum - hypoplasie van vermis cerebelli met cysten in achterste schedelgroeve-syndroom"],"definition":"Partiële agenesie van het corpus callosum - hypoplasie van de cerebellaire vermis met cysten in de posterieure fossa-syndroom is een zeldzame, erfelijke, cerebrale malformatie met epilepsiesyndroom, en wordt gekarakteriseerd door ernstige algehele ontwikkelingsachterstand met onvermogen om te stappen en afwezigheid van verbale taal, hardnekkige epilepsie, partiële agenesie van het corpus callosum en hypoplasie van de cerebellaire vermis met cysten in de posterieure fossa."},"pt":{"name":"Síndrome de agenesia do corpo caloso parcial-hipoplasia do vermis cerebeloso com quistos da fossa posterior"},"pl":{"name":"Zespół częściowej agenezji ciała modzelowatego, hipoplazji robaka móżdżku z torbielami tylnego dołu czaszki","synonyms":["KPNA7-related neurodevelopmental disorder"],"definition":"*Zespół częściowej agenezji ciała modzelowatego, hipoplazji robaka móżdżku z torbielami tylnego dołu czaszki jest rzadką, dziedziczną wadą rozwojową mózgu z zespołem padaczkowym, która charakteryzuje się ciężkim, całościowym opóźnieniem rozwoju bez osiągnięcia zdolności do samodzielnego chodzenia i bez języka werbalnego, nieuleczalną padaczką, częściową agenezją ciała modzelowatego i hipoplazją robaka móżdżku z torbielami tylnego dołu czaszki."},"cs":{"name":"Syndrom zahrnující parciální agenezi corpus callosum a hypoplázii vermis mozečku s cystami ve fossa posterior","synonyms":["KPNA7-related neurodevelopmental disorder"]},"uk":{"name":"Синдром часткової агенезії мозолистого тіла-гіпоплазії червяка мозочка з кістами задньої черепної ямки","definition":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts."},"zh":{"name":"部分胼胝体发育不全-小脑蚓部发育不全伴后颅窝囊肿综合征","definition":"胼胝体部分发育不全-小脑蚓部发育不全伴后颅窝囊肿综合征是一种罕见的遗传性脑畸形伴有癫痫综合征，其特征是严重的整体发育迟缓，无行走能力，无言语能力，顽固性癫痫，胼胝体部分发育不全和小脑蚓部发育不全伴窝后窝囊肿。"},"tr":{"name":"Posterior fossa kist sendromu ile seyden kısmi korpus kallozum agenezi-serebellar vermis hipoplazisi"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018430","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750913","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":730406,"name":"Genetic syndrome with a posterior fossa cystic malformation as a major feature","classifications":[156]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":729566,"name":"Syndrome with a posterior fossa cystic malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"KPNA7","name":"karyopherin subunit alpha 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24045845[PMID]","hgnc":"21839","ensembl":"ENSG00000185467","omim":"614107","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24045845[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24045845[PMID]"}],"phenotypes":null}